Variant report

Variant	rs5754041
Chromosome Location	chr22:32769005-32769006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	22:31936958-31958600..22:32764253-32784733	K562	blood:
3	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
4	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
5	22:32360288-32405313..22:32764253-32784733	K562	blood:

Variant related genes	Relation type
ENSG00000240647	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000232707	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs11089557	0.93[ASN][1000 genomes]
rs11089560	0.83[ASN][1000 genomes]
rs12160141	0.94[ASN][1000 genomes]
rs12160488	0.88[AFR][1000 genomes]
rs12160986	0.94[ASN][1000 genomes]
rs136471	0.92[ASN][1000 genomes]
rs16987625	0.93[ASN][1000 genomes]
rs16990228	0.80[ASN][1000 genomes]
rs16990258	0.94[ASN][1000 genomes]
rs16990262	0.94[ASN][1000 genomes]
rs16990269	0.94[ASN][1000 genomes]
rs1810450	0.89[ASN][1000 genomes]
rs2413110	0.91[ASN][1000 genomes]
rs2413111	0.86[ASN][1000 genomes]
rs28404482	0.90[ASN][1000 genomes]
rs28625291	0.90[AFR][1000 genomes]
rs2899184	0.84[ASN][1000 genomes]
rs35207231	0.87[ASN][1000 genomes]
rs45593940	0.93[ASN][1000 genomes]
rs4577392	0.87[ASN][1000 genomes]
rs55844652	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749408	0.89[ASN][1000 genomes]
rs5749409	0.94[ASN][1000 genomes]
rs5749410	0.94[ASN][1000 genomes]
rs5749411	0.95[ASN][1000 genomes]
rs5749412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749413	0.95[ASN][1000 genomes]
rs5753989	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5754000	0.87[ASN][1000 genomes]
rs5754001	0.91[ASN][1000 genomes]
rs5754003	0.90[ASN][1000 genomes]
rs5754005	0.90[ASN][1000 genomes]
rs5754006	0.92[ASN][1000 genomes]
rs5754007	0.93[ASN][1000 genomes]
rs5754008	0.93[ASN][1000 genomes]
rs5754009	0.93[ASN][1000 genomes]
rs5754010	0.91[ASN][1000 genomes]
rs5754011	0.93[ASN][1000 genomes]
rs5754012	0.93[ASN][1000 genomes]
rs5754016	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754017	0.94[ASN][1000 genomes]
rs5754018	0.94[ASN][1000 genomes]
rs5754019	0.93[ASN][1000 genomes]
rs5754020	0.83[ASN][1000 genomes]
rs5754021	0.91[ASN][1000 genomes]
rs5754023	0.94[ASN][1000 genomes]
rs5754024	0.95[ASN][1000 genomes]
rs5754025	0.94[ASN][1000 genomes]
rs5754027	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754029	0.94[ASN][1000 genomes]
rs5754030	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754031	0.83[ASN][1000 genomes]
rs5754032	0.94[ASN][1000 genomes]
rs5754033	0.94[ASN][1000 genomes]
rs5754035	0.95[ASN][1000 genomes]
rs5754036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754039	0.95[ASN][1000 genomes]
rs5754040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754042	0.95[ASN][1000 genomes]
rs5754043	0.80[ASN][1000 genomes]
rs5754044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754045	0.95[ASN][1000 genomes]
rs5754046	0.82[ASN][1000 genomes]
rs5754047	0.95[ASN][1000 genomes]
rs5754048	0.93[ASN][1000 genomes]
rs5754049	0.80[ASN][1000 genomes]
rs5754050	0.94[ASN][1000 genomes]
rs57606003	0.80[ASN][1000 genomes]
rs58028985	0.92[ASN][1000 genomes]
rs58500302	0.83[ASN][1000 genomes]
rs5994554	0.84[AFR][1000 genomes]
rs5994555	0.91[AFR][1000 genomes]
rs5994556	0.85[AFR][1000 genomes]
rs5994557	0.85[AFR][1000 genomes]
rs5994558	0.84[AFR][1000 genomes]
rs5994559	0.85[AFR][1000 genomes]
rs5998434	0.90[ASN][1000 genomes]
rs5998440	0.83[ASN][1000 genomes]
rs5998442	0.88[AFR][1000 genomes]
rs5998443	0.88[AFR][1000 genomes]
rs5998444	0.88[AFR][1000 genomes]
rs5998445	0.88[AFR][1000 genomes]
rs5998447	0.85[AFR][1000 genomes]
rs5998450	0.91[AFR][1000 genomes]
rs5998451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5998452	0.90[AFR][1000 genomes]
rs5998453	0.94[ASN][1000 genomes]
rs5998455	0.90[AFR][1000 genomes]
rs5998457	0.94[ASN][1000 genomes]
rs5998458	0.90[AFR][1000 genomes]
rs5998459	0.93[ASN][1000 genomes]
rs5998460	0.90[AFR][1000 genomes]
rs5998462	0.87[AFR][1000 genomes]
rs5998464	0.91[AFR][1000 genomes]
rs5998465	0.89[AFR][1000 genomes]
rs5998466	0.85[AFR][1000 genomes]
rs5998467	0.85[AFR][1000 genomes]
rs61644931	0.85[AFR][1000 genomes]
rs713647	0.90[AFR][1000 genomes]
rs72617300	0.90[ASN][1000 genomes]
rs72617301	0.90[ASN][1000 genomes]
rs72617302	0.90[ASN][1000 genomes]
rs72620403	0.90[ASN][1000 genomes]
rs72620404	0.91[ASN][1000 genomes]
rs72620405	0.90[ASN][1000 genomes]
rs72620406	0.90[ASN][1000 genomes]
rs72620407	0.91[ASN][1000 genomes]
rs72620408	0.91[ASN][1000 genomes]
rs7290125	0.80[ASN][1000 genomes]
rs7291329	0.81[ASN][1000 genomes]
rs7291359	0.95[ASN][1000 genomes]
rs7292163	0.81[ASN][1000 genomes]
rs738267	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73881644	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	esv1817721	chr22:32758417-32770340	Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv519170	chr22:32765949-32771017	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas

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